Variant report

Variant	rs72815270
Chromosome Location	chr5:114788850-114788851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114787173..114789116-chr5:114797971..114800586,2	MCF-7	breast:
2	chr5:114749201..114751602-chr5:114786972..114789566,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519408	0.89[EUR][1000 genomes]
rs10519409	0.86[EUR][1000 genomes]
rs12514865	0.91[EUR][1000 genomes]
rs12519685	0.81[EUR][1000 genomes]
rs13162303	0.93[EUR][1000 genomes]
rs17137802	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35615508	0.84[EUR][1000 genomes]
rs67370339	0.85[EUR][1000 genomes]
rs71579498	0.82[EUR][1000 genomes]
rs71579499	0.82[EUR][1000 genomes]
rs71579500	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114777200-114790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114785400-114790400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:114785400-114794600	Enhancers	Fetal Intestine Small	intestine
4	chr5:114785600-114796200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:114786000-114789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:114786000-114789400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:114786000-114789400	Enhancers	Pancreas	Pancrea
8	chr5:114786000-114789400	Enhancers	NHDF-Ad	bronchial
9	chr5:114786000-114790400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:114786000-114794000	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:114786000-114794400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:114786000-114795800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:114786000-114796200	Enhancers	Fetal Intestine Large	intestine
14	chr5:114786400-114791400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr5:114786400-114795600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114786600-114789800	Enhancers	Osteobl	bone
17	chr5:114786600-114790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:114786600-114790400	Weak transcription	Brain Anterior Caudate	brain
19	chr5:114786600-114790400	Weak transcription	Brain Substantia Nigra	brain
20	chr5:114786600-114790600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:114786600-114791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:114786600-114793400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:114786600-114795200	Weak transcription	HSMMtube	muscle
24	chr5:114786800-114789400	Enhancers	Colonic Mucosa	Colon
25	chr5:114786800-114790400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:114786800-114791000	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:114786800-114791000	Weak transcription	Hela-S3	cervix
28	chr5:114786800-114792600	Weak transcription	GM12878-XiMat	blood
29	chr5:114786800-114793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:114786800-114794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:114786800-114794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:114786800-114796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:114786800-114796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:114787000-114790200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:114787000-114790800	Weak transcription	HMEC	breast
36	chr5:114787000-114799400	Weak transcription	Fetal Lung	lung
37	chr5:114787200-114789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:114787400-114789400	Enhancers	Gastric	stomach
39	chr5:114787400-114790200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:114787400-114790400	Weak transcription	NHLF	lung
41	chr5:114787400-114790600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:114787400-114790600	Weak transcription	NH-A	brain
43	chr5:114787400-114790800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:114787600-114792600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:114787800-114792200	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:114787800-114793400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:114788000-114790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:114788000-114790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:114788200-114790400	Weak transcription	Lung	lung
50	chr5:114788600-114789000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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